Incidental Mutation 'R0178:Kcnma1'
ID 23777
Institutional Source Beutler Lab
Gene Symbol Kcnma1
Ensembl Gene ENSMUSG00000063142
Gene Name potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Synonyms MaxiK, BKCa, 5730414M22Rik, BK channel alpha subunit, Slo, Slo1, mSlo1
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.856) question?
Stock # R0178 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 14
Chromosomal Location 23342356-24055173 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23576835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 236 (R236H)
Ref Sequence ENSEMBL: ENSMUSP00000153356 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065788] [ENSMUST00000074983] [ENSMUST00000100831] [ENSMUST00000112423] [ENSMUST00000145596] [ENSMUST00000163322] [ENSMUST00000177634] [ENSMUST00000179097] [ENSMUST00000188210] [ENSMUST00000172099] [ENSMUST00000190044] [ENSMUST00000179836] [ENSMUST00000188991] [ENSMUST00000188285] [ENSMUST00000212576] [ENSMUST00000190985] [ENSMUST00000223655] [ENSMUST00000223727] [ENSMUST00000224232] [ENSMUST00000225431] [ENSMUST00000223749] [ENSMUST00000224787] [ENSMUST00000225556] [ENSMUST00000224812] [ENSMUST00000225794] [ENSMUST00000224468] [ENSMUST00000225471] [ENSMUST00000224077] [ENSMUST00000226051] [ENSMUST00000225315] [ENSMUST00000224285]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065788
AA Change: R269H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065293
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 2.2e-18 PFAM
Pfam:Ion_trans_2 180 268 5.7e-16 PFAM
Pfam:TrkA_N 314 413 7.5e-7 PFAM
Pfam:BK_channel_a 411 509 6.4e-31 PFAM
low complexity region 835 843 N/A INTRINSIC
low complexity region 891 902 N/A INTRINSIC
low complexity region 1005 1031 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000074983
AA Change: R269H

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074511
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 2.2e-18 PFAM
Pfam:Ion_trans_2 180 268 5.7e-16 PFAM
Pfam:TrkA_N 314 413 7.5e-7 PFAM
Pfam:BK_channel_a 411 509 6.4e-31 PFAM
low complexity region 894 902 N/A INTRINSIC
low complexity region 950 961 N/A INTRINSIC
low complexity region 1064 1090 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000100831
AA Change: R269H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098393
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 2.1e-18 PFAM
Pfam:Ion_trans_2 180 268 5.5e-16 PFAM
Pfam:TrkA_N 314 413 7.3e-7 PFAM
Pfam:BK_channel_a 411 509 6.2e-31 PFAM
low complexity region 865 873 N/A INTRINSIC
low complexity region 921 932 N/A INTRINSIC
low complexity region 1035 1061 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112423
AA Change: R215H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108042
Gene: ENSMUSG00000063142
AA Change: R215H

DomainStartEndE-ValueType
transmembrane domain 2 19 N/A INTRINSIC
Pfam:Ion_trans 37 208 2.1e-18 PFAM
Pfam:Ion_trans_2 126 214 5.3e-16 PFAM
Pfam:TrkA_N 260 359 7e-7 PFAM
Pfam:BK_channel_a 357 455 6e-31 PFAM
low complexity region 781 789 N/A INTRINSIC
low complexity region 837 848 N/A INTRINSIC
low complexity region 951 977 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000145596
AA Change: R394H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000163322
SMART Domains Protein: ENSMUSP00000128553
Gene: ENSMUSG00000063142

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 3.2e-18 PFAM
Pfam:Ion_trans_2 180 268 1.1e-15 PFAM
Pfam:TrkA_N 314 413 7e-7 PFAM
Pfam:BK_channel_a 411 509 6e-31 PFAM
low complexity region 832 840 N/A INTRINSIC
low complexity region 888 899 N/A INTRINSIC
low complexity region 1002 1028 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177634
AA Change: R269H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136447
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
Pfam:Ion_trans 53 272 4.9e-19 PFAM
Pfam:Ion_trans_2 180 267 1.2e-15 PFAM
Pfam:BK_channel_a 413 508 1.2e-35 PFAM
low complexity region 862 870 N/A INTRINSIC
low complexity region 918 929 N/A INTRINSIC
low complexity region 1032 1058 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000179097
AA Change: R269H

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136568
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 4.6e-18 PFAM
Pfam:Ion_trans_2 180 268 1e-15 PFAM
Pfam:TrkA_N 314 413 1.1e-7 PFAM
Pfam:BK_channel_a 411 509 3.2e-31 PFAM
low complexity region 859 867 N/A INTRINSIC
low complexity region 915 926 N/A INTRINSIC
low complexity region 1029 1055 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188210
AA Change: R329H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141069
Gene: ENSMUSG00000063142
AA Change: R329H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
Pfam:Ion_trans 216 387 1.3e-18 PFAM
Pfam:Ion_trans_2 305 393 5.2e-16 PFAM
Pfam:TrkA_N 439 538 7.8e-7 PFAM
Pfam:BK_channel_a 536 634 5e-31 PFAM
low complexity region 988 996 N/A INTRINSIC
low complexity region 1044 1055 N/A INTRINSIC
low complexity region 1158 1184 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172099
AA Change: R269H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132204
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 2.2e-18 PFAM
Pfam:Ion_trans_2 180 268 5.7e-16 PFAM
Pfam:TrkA_N 314 413 7.6e-7 PFAM
Pfam:BK_channel_a 411 509 6.5e-31 PFAM
low complexity region 897 905 N/A INTRINSIC
low complexity region 953 964 N/A INTRINSIC
low complexity region 1067 1093 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190044
AA Change: R394H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140033
Gene: ENSMUSG00000063142
AA Change: R394H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
Pfam:Ion_trans 216 387 1.3e-18 PFAM
Pfam:Ion_trans_2 305 393 5.1e-16 PFAM
Pfam:TrkA_N 439 538 7.5e-7 PFAM
Pfam:BK_channel_a 536 634 4.9e-31 PFAM
low complexity region 957 965 N/A INTRINSIC
low complexity region 1013 1024 N/A INTRINSIC
low complexity region 1127 1153 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179836
AA Change: R269H

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000137141
Gene: ENSMUSG00000063142
AA Change: R269H

DomainStartEndE-ValueType
low complexity region 20 31 N/A INTRINSIC
transmembrane domain 54 73 N/A INTRINSIC
Pfam:Ion_trans 91 262 4.2e-18 PFAM
Pfam:Ion_trans_2 180 268 9.5e-16 PFAM
Pfam:BK_channel_a 389 457 2.4e-15 PFAM
low complexity region 838 846 N/A INTRINSIC
low complexity region 894 905 N/A INTRINSIC
low complexity region 1008 1034 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188991
AA Change: R394H

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140751
Gene: ENSMUSG00000063142
AA Change: R394H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
Pfam:Ion_trans 216 387 3.3e-18 PFAM
Pfam:Ion_trans_2 305 393 1.1e-15 PFAM
Pfam:TrkA_N 439 538 3.7e-7 PFAM
Pfam:BK_channel_a 536 634 3.4e-31 PFAM
low complexity region 1015 1023 N/A INTRINSIC
low complexity region 1071 1082 N/A INTRINSIC
low complexity region 1185 1211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188285
AA Change: R394H

PolyPhen 2 Score 0.324 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000140275
Gene: ENSMUSG00000063142
AA Change: R394H

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 86 108 N/A INTRINSIC
low complexity region 145 156 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
Pfam:Ion_trans 216 387 1.3e-18 PFAM
Pfam:Ion_trans_2 305 393 5.4e-16 PFAM
Pfam:TrkA_N 439 538 8e-7 PFAM
Pfam:BK_channel_a 536 634 5.2e-31 PFAM
low complexity region 1019 1027 N/A INTRINSIC
low complexity region 1075 1086 N/A INTRINSIC
low complexity region 1189 1215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212576
AA Change: R195H

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect unknown
Transcript: ENSMUST00000190985
AA Change: R329H
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212542
Predicted Effect possibly damaging
Transcript: ENSMUST00000223655
AA Change: R329H

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000223727
AA Change: R329H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224232
AA Change: R329H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000225431
AA Change: R329H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223749
AA Change: R329H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224787
AA Change: R275H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225556
AA Change: R329H

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000224812
AA Change: R329H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225794
AA Change: R329H

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224468
AA Change: R394H

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000225471
AA Change: R329H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000224077
AA Change: R329H

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000226051
AA Change: R236H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect unknown
Transcript: ENSMUST00000224025
AA Change: R344H
Predicted Effect probably damaging
Transcript: ENSMUST00000225315
AA Change: R329H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000224285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225305
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223847
Meta Mutation Damage Score 0.3660 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit, which is the product of this gene, and the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to cerebellar ataxia, Purkinje cell dysfunction, uneven gait patterns, bladder hyperactivity, urinary incontinence, abnormal colonic K+ secretion, and hearing impairment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Rbm17 G A 2: 11,592,590 (GRCm39) S295L probably benign Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Kcnma1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Kcnma1 APN 14 23,364,390 (GRCm39) splice site probably benign
IGL01520:Kcnma1 APN 14 23,551,211 (GRCm39) missense possibly damaging 0.94
IGL01977:Kcnma1 APN 14 23,580,367 (GRCm39) splice site probably benign
IGL02140:Kcnma1 APN 14 23,359,113 (GRCm39) missense probably damaging 1.00
IGL02165:Kcnma1 APN 14 23,387,035 (GRCm39) missense possibly damaging 0.93
IGL02186:Kcnma1 APN 14 23,576,881 (GRCm39) missense probably benign 0.28
IGL02268:Kcnma1 APN 14 23,593,144 (GRCm39) missense probably damaging 1.00
IGL02353:Kcnma1 APN 14 23,641,681 (GRCm39) missense probably damaging 1.00
IGL02360:Kcnma1 APN 14 23,641,681 (GRCm39) missense probably damaging 1.00
IGL02491:Kcnma1 APN 14 23,361,757 (GRCm39) missense probably damaging 1.00
IGL02552:Kcnma1 APN 14 23,436,327 (GRCm39) critical splice donor site probably null
IGL02625:Kcnma1 APN 14 23,413,900 (GRCm39) missense probably damaging 1.00
IGL02677:Kcnma1 APN 14 23,513,224 (GRCm39) missense probably damaging 1.00
IGL02706:Kcnma1 APN 14 23,359,222 (GRCm39) missense probably damaging 1.00
G1citation:Kcnma1 UTSW 14 24,053,812 (GRCm39) splice site probably null
PIT4495001:Kcnma1 UTSW 14 23,475,665 (GRCm39) missense probably benign 0.00
PIT4514001:Kcnma1 UTSW 14 23,359,103 (GRCm39) splice site probably null
PIT4576001:Kcnma1 UTSW 14 23,359,103 (GRCm39) splice site probably null
R0071:Kcnma1 UTSW 14 23,576,835 (GRCm39) missense probably damaging 1.00
R0071:Kcnma1 UTSW 14 23,576,835 (GRCm39) missense probably damaging 1.00
R0115:Kcnma1 UTSW 14 23,364,243 (GRCm39) missense probably damaging 1.00
R0172:Kcnma1 UTSW 14 23,853,234 (GRCm39) missense probably damaging 1.00
R0183:Kcnma1 UTSW 14 23,558,120 (GRCm39) missense probably damaging 1.00
R0240:Kcnma1 UTSW 14 23,544,647 (GRCm39) missense probably damaging 1.00
R0240:Kcnma1 UTSW 14 23,544,647 (GRCm39) missense probably damaging 1.00
R0328:Kcnma1 UTSW 14 23,423,265 (GRCm39) missense probably damaging 1.00
R0501:Kcnma1 UTSW 14 23,361,784 (GRCm39) missense possibly damaging 0.80
R0631:Kcnma1 UTSW 14 23,559,852 (GRCm39) splice site probably benign
R0668:Kcnma1 UTSW 14 23,417,563 (GRCm39) missense probably damaging 1.00
R0811:Kcnma1 UTSW 14 23,350,086 (GRCm39) missense probably damaging 0.96
R0812:Kcnma1 UTSW 14 23,350,086 (GRCm39) missense probably damaging 0.96
R1080:Kcnma1 UTSW 14 23,544,675 (GRCm39) missense probably damaging 1.00
R1419:Kcnma1 UTSW 14 23,417,710 (GRCm39) missense probably damaging 0.99
R1446:Kcnma1 UTSW 14 23,361,792 (GRCm39) missense probably damaging 1.00
R1454:Kcnma1 UTSW 14 23,513,268 (GRCm39) missense probably damaging 1.00
R1651:Kcnma1 UTSW 14 23,364,262 (GRCm39) missense probably damaging 1.00
R1826:Kcnma1 UTSW 14 23,380,997 (GRCm39) missense probably damaging 1.00
R1827:Kcnma1 UTSW 14 23,380,997 (GRCm39) missense probably damaging 1.00
R1828:Kcnma1 UTSW 14 23,380,997 (GRCm39) missense probably damaging 1.00
R1864:Kcnma1 UTSW 14 23,853,230 (GRCm39) missense probably damaging 1.00
R2002:Kcnma1 UTSW 14 23,387,097 (GRCm39) missense probably damaging 0.99
R2140:Kcnma1 UTSW 14 23,364,288 (GRCm39) missense probably damaging 1.00
R2278:Kcnma1 UTSW 14 23,593,151 (GRCm39) nonsense probably null
R2866:Kcnma1 UTSW 14 23,423,275 (GRCm39) missense probably benign 0.16
R2867:Kcnma1 UTSW 14 23,423,275 (GRCm39) missense probably benign 0.16
R2867:Kcnma1 UTSW 14 23,423,275 (GRCm39) missense probably benign 0.16
R2900:Kcnma1 UTSW 14 23,853,228 (GRCm39) missense probably damaging 1.00
R3820:Kcnma1 UTSW 14 23,350,006 (GRCm39) missense possibly damaging 0.66
R3821:Kcnma1 UTSW 14 23,417,679 (GRCm39) missense probably damaging 1.00
R3901:Kcnma1 UTSW 14 23,555,323 (GRCm39) missense probably damaging 0.98
R3975:Kcnma1 UTSW 14 24,053,815 (GRCm39) critical splice donor site probably null
R3976:Kcnma1 UTSW 14 24,053,815 (GRCm39) critical splice donor site probably null
R4352:Kcnma1 UTSW 14 23,361,720 (GRCm39) missense probably damaging 1.00
R4517:Kcnma1 UTSW 14 23,387,097 (GRCm39) missense probably damaging 1.00
R4598:Kcnma1 UTSW 14 23,853,228 (GRCm39) missense probably damaging 1.00
R4604:Kcnma1 UTSW 14 23,359,106 (GRCm39) critical splice donor site probably null
R4743:Kcnma1 UTSW 14 23,853,270 (GRCm39) missense probably damaging 1.00
R4754:Kcnma1 UTSW 14 23,413,904 (GRCm39) missense probably damaging 0.96
R4908:Kcnma1 UTSW 14 23,359,220 (GRCm39) missense probably damaging 0.99
R4960:Kcnma1 UTSW 14 24,054,186 (GRCm39) intron probably benign
R5175:Kcnma1 UTSW 14 23,386,106 (GRCm39) critical splice donor site probably null
R5218:Kcnma1 UTSW 14 23,513,253 (GRCm39) missense probably damaging 0.96
R5435:Kcnma1 UTSW 14 23,578,472 (GRCm39) nonsense probably null
R5705:Kcnma1 UTSW 14 24,053,839 (GRCm39) missense possibly damaging 0.73
R5746:Kcnma1 UTSW 14 23,544,635 (GRCm39) missense probably damaging 1.00
R5780:Kcnma1 UTSW 14 23,436,419 (GRCm39) nonsense probably null
R5793:Kcnma1 UTSW 14 23,359,103 (GRCm39) splice site probably null
R6039:Kcnma1 UTSW 14 23,359,105 (GRCm39) missense probably benign 0.42
R6039:Kcnma1 UTSW 14 23,359,105 (GRCm39) missense probably benign 0.42
R6133:Kcnma1 UTSW 14 24,053,936 (GRCm39) missense probably damaging 0.98
R6271:Kcnma1 UTSW 14 23,559,957 (GRCm39) missense probably damaging 1.00
R6490:Kcnma1 UTSW 14 23,386,165 (GRCm39) missense possibly damaging 0.46
R6704:Kcnma1 UTSW 14 24,052,882 (GRCm39) nonsense probably null
R6822:Kcnma1 UTSW 14 24,053,812 (GRCm39) splice site probably null
R6855:Kcnma1 UTSW 14 23,417,679 (GRCm39) missense probably damaging 1.00
R6920:Kcnma1 UTSW 14 23,576,602 (GRCm39) critical splice donor site probably null
R7017:Kcnma1 UTSW 14 23,544,711 (GRCm39) missense possibly damaging 0.79
R7081:Kcnma1 UTSW 14 23,350,086 (GRCm39) missense probably damaging 0.96
R7113:Kcnma1 UTSW 14 23,513,224 (GRCm39) missense probably damaging 1.00
R7131:Kcnma1 UTSW 14 23,417,562 (GRCm39) missense probably damaging 1.00
R7172:Kcnma1 UTSW 14 23,576,691 (GRCm39) missense probably damaging 1.00
R7207:Kcnma1 UTSW 14 23,359,083 (GRCm39) makesense probably null
R7308:Kcnma1 UTSW 14 23,381,003 (GRCm39) missense probably damaging 0.99
R7371:Kcnma1 UTSW 14 23,544,638 (GRCm39) missense possibly damaging 0.94
R7404:Kcnma1 UTSW 14 24,052,902 (GRCm39) missense unknown
R7560:Kcnma1 UTSW 14 23,580,310 (GRCm39) missense probably benign 0.15
R7693:Kcnma1 UTSW 14 23,417,680 (GRCm39) missense probably damaging 1.00
R7763:Kcnma1 UTSW 14 23,350,074 (GRCm39) missense possibly damaging 0.66
R7809:Kcnma1 UTSW 14 23,423,324 (GRCm39) missense probably benign 0.16
R7832:Kcnma1 UTSW 14 23,440,991 (GRCm39) missense probably benign
R7884:Kcnma1 UTSW 14 23,387,057 (GRCm39) missense probably benign 0.01
R8013:Kcnma1 UTSW 14 23,423,211 (GRCm39) missense probably benign 0.31
R8014:Kcnma1 UTSW 14 23,423,211 (GRCm39) missense probably benign 0.31
R8066:Kcnma1 UTSW 14 23,361,744 (GRCm39) missense probably benign 0.00
R8097:Kcnma1 UTSW 14 23,381,032 (GRCm39) missense probably damaging 1.00
R8154:Kcnma1 UTSW 14 23,361,822 (GRCm39) missense possibly damaging 0.62
R8507:Kcnma1 UTSW 14 23,641,706 (GRCm39) missense probably benign 0.00
R8672:Kcnma1 UTSW 14 23,551,230 (GRCm39) missense probably damaging 1.00
R8677:Kcnma1 UTSW 14 23,436,418 (GRCm39) missense probably benign 0.36
R8725:Kcnma1 UTSW 14 23,436,332 (GRCm39) missense probably benign 0.00
R8727:Kcnma1 UTSW 14 23,436,332 (GRCm39) missense probably benign 0.00
R8827:Kcnma1 UTSW 14 23,417,548 (GRCm39) missense probably damaging 1.00
R8880:Kcnma1 UTSW 14 23,417,718 (GRCm39) missense probably damaging 1.00
R8997:Kcnma1 UTSW 14 23,513,037 (GRCm39) intron probably benign
R9056:Kcnma1 UTSW 14 23,700,214 (GRCm39) missense possibly damaging 0.80
R9346:Kcnma1 UTSW 14 23,700,233 (GRCm39) missense possibly damaging 0.94
R9403:Kcnma1 UTSW 14 23,593,145 (GRCm39) missense probably benign 0.05
R9438:Kcnma1 UTSW 14 23,417,653 (GRCm39) missense probably benign 0.00
R9482:Kcnma1 UTSW 14 23,441,033 (GRCm39) missense probably benign
R9511:Kcnma1 UTSW 14 23,361,793 (GRCm39) missense possibly damaging 0.90
R9649:Kcnma1 UTSW 14 23,501,666 (GRCm39) critical splice donor site probably null
R9663:Kcnma1 UTSW 14 24,053,897 (GRCm39) missense probably benign 0.15
R9673:Kcnma1 UTSW 14 23,558,123 (GRCm39) missense probably benign 0.01
RF001:Kcnma1 UTSW 14 23,361,765 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGCCACTGCTCCAGGGACTTTC -3'
(R):5'- ATCCGCACCTTTGCAGGTCTAATC -3'

Sequencing Primer
(F):5'- TCAAGCACATGTCCTCAGGTG -3'
(R):5'- CAGGTCTAATCCTTTTGTGTTTTCAG -3'
Posted On 2013-04-16